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Hereditary kidney diseases associated with hypomagnesemia.
Claverie-Martin F, Perdomo-Ramirez A, Garcia-Nieto V. Claverie-Martin F, et al. Kidney Res Clin Pract. 2021 Dec;40(4):512-526. doi: 10.23876/j.krcp.21.112. Epub 2021 Nov 12. Kidney Res Clin Pract. 2021. PMID: 34784661 Free PMC article.
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R; RenalTube Group. Claverie-Martín F, et al. PLoS One. 2013;8(1):e53151. doi: 10.1371/journal.pone.0053151. Epub 2013 Jan 3. PLoS One. 2013. PMID: 23301036 Free PMC article.
Dent's disease: clinical features and molecular basis.
Claverie-Martín F, Ramos-Trujillo E, García-Nieto V. Claverie-Martín F, et al. Pediatr Nephrol. 2011 May;26(5):693-704. doi: 10.1007/s00467-010-1657-0. Epub 2010 Oct 10. Pediatr Nephrol. 2011. PMID: 20936522
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MAF, Santos F, Camacho JA, Claverie-Martín F. Ramos-Trujillo E, et al. J Hum Genet. 2007;52(3):255-261. doi: 10.1007/s10038-007-0112-y. Epub 2007 Jan 30. J Hum Genet. 2007. PMID: 17262170
Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.
Ramos-Trujillo E, Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A; RenalTube Group. Ramos-Trujillo E, et al. J Pediatr Genet. 2013 Sep;2(3):133-40. doi: 10.3233/PGE-13061. J Pediatr Genet. 2013. PMID: 27625851 Free PMC article.
149 results